apnea |
ataxia |
blindness, visual loss, visual impairment |
corpus callosum, agenesis/hypoplasia |
dysmorphism |
failure to thrive |
genital hypoplasia |
hypotonia |
macrocephaly (large calvaria, >2 SD for age) |
mental retardation |
nystagmus |
onset, infancy |
onset, neonatal |
polydactyly |
renal cysts |
tachypnea, hyperpnea, dyspnea, respiratory distress |